Associated Papers
The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.
Noureldeen MM et al.
Italian Journal of Pediatrics, 2025
Spectrum of Genetic Mutations Among Iranian Patients with Gangliosidosis.
Khalilian S et al.
Biochemical Genetics, 2025
The p53-miR17 family-Rankl axis bridges liver-bone communication.
Ma G et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Chaperone therapy: Stabilization and enhancement of endogenous and exogenous lysosomal enzymes.
Suzuki Y
Brain & Development, 2025
Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies.
Hosseini K et al.
Cell Biochemistry and Function, 2023
Validation of a highly sensitive HaloTag-based assay to evaluate the potency of a novel class of allosteric β-Galactosidase correctors.
Rudinskiy M et al.
Plos One, 2023
TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease.
Scotto Rosato A et al.
Embo Molecular Medicine, 2022
Hematopoietic stem cell gene therapy ameliorates CNS involvement in murine model of GM1-gangliosidosis.
Tsunogai T et al.
Molecular Therapy. Methods & Clinical Development, 2022
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Tebani A et al.
Journal of Medical Genetics, 2022
Pharmacological Chaperones for β-Galactosidase Related to GM1 -Gangliosidosis and Morquio B: Recent Advances.
Stütz AE et al.
Chemical Record (new York, N.y.), 2021
Modeling plasticity and dysplasia of pancreatic ductal organoids derived from human pluripotent stem cells.
Breunig M et al.
Cell Stem Cell, 2021
Structure of the murine lysosomal multienzyme complex core.
Gorelik A et al.
Science Advances, 2021
GM1 Gangliosidosis: Mechanisms and Management.
Rha AK et al.
The Application of Clinical Genetics, 2021
An autopsy case of GM1 gangliosidosis type II in a patient who survived a long duration with artificial respiratory support.
Uchino A et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2020
Novel Drug Candidates Improve Ganglioside Accumulation and Neural Dysfunction in GM1 Gangliosidosis Models with Autophagy Activation.
Kajihara R et al.
Stem Cell Reports, 2020
The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.
Mohamed FE et al.
Human Genetics, 2020
Morquio-B disease: Clinical and genetic characteristics of a distinct GLB1-related dysostosis multiplex.
Abumansour IS et al.
Jimd Reports, 2020
Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses.
Losada Díaz JC et al.
International Journal of Molecular Sciences, 2019
The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
Arash-Kaps L et al.
The Journal of Pediatrics, 2019
Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.
Kaseniit KE et al.
Clinical Genetics, 2019
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Disruption of protein function by pathogenic mutations: common and uncommon mechanisms 1.
Taipale M
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2019
SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.
Ou L et al.
Clinical Genetics, 2018
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.
Lee JS et al.
Brain & Development, 2018
Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study.
Nestrasil I et al.
Molecular Genetics and Metabolism, 2018
Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing.
Bouhouche A et al.
Case Reports in Genetics, 2018
Intracellular Delivery of β-Galactosidase Enzyme Using Arginase-Responsive Dextran Sulfate/Poly-l-arginine Capsule for Lysosomal Storage Disorder.
Gupta M et al.
Acs Omega, 2017
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.
Deodato F et al.
Metabolic Brain Disease, 2017
A new type of pharmacological chaperone for GM1-gangliosidosis related human lysosomal β-galactosidase: N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols.
Schalli M et al.
Bioorganic & Medicinal Chemistry Letters, 2017
Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.
Karimzadeh P et al.
Bmc Medical Genetics, 2017
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
Lysosomal storage diseases.
Ferreira CR et al.
Translational Science of Rare Diseases, 2017
N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols: A new family of activity promotors for a GM1-gangliosidosis related human lysosomal β-galactosidase mutant.
Schalli M et al.
Carbohydrate Research, 2017
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.
Front S et al.
European Journal of Medicinal Chemistry, 2017
Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases.
Sánchez-Fernández EM et al.
Chemical Communications (cambridge, England), 2016
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.
Regier DS et al.
American Journal of Medical Genetics. Part A, 2016
A novel human model of the neurodegenerative disease GM1 gangliosidosis using induced pluripotent stem cells demonstrates inflammasome activation.
Son MY et al.
The Journal of Pathology, 2015
Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders.
Kwak JE et al.
Biochemical and Biophysical Research Communications, 2015
Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis.
Takenouchi T et al.
Pediatric Neurology, 2015
From sheep to mice to cells: tools for the study of the sphingolipidoses.
Zigdon H et al.
Biochimica Et Biophysica Acta, 2014
Structural basis of pharmacological chaperoning for human β-galactosidase.
Suzuki H et al.
The Journal of Biological Chemistry, 2014
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN et al.
Human Genetics, 2013
A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis.
Takai T et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2013